SGCE (Gene)

Organism:

Homo sapiens

Synonyms:DYT11, ENTREZ:8910, ESG, HGNC:10808, MIM:604149, NM_001099400, NM_001099401, NM_001301139, NM_001346713, NM_001346715, NM_001346717, NM_001346719, NM_001346720, NM_001362807, NM_001362808, NM_001362809, NM_003919, NP_001092870, NP_001092871, NP_001288068, NP_001333642, NP_001333644, NP_001333646, NP_001333648, NP_001333649, NP_001349736, NP_001349737, NP_001349738, NP_003910, SGCE, XM_011516663, XM_011516664, XM_011516665, XM_011516666, XM_011516667, XM_011516669, XM_017012763, XM_017012767, XM_024446985, XM_024446986, XP_011514965, XP_011514966, XP_011514967, XP_011514968, XP_011514969, XP_011514971, XP_016868252, XP_016868256, XP_024302753, XP_024302754, epsilon-SG, sarcoglycan epsilon

Omim:OMIM:604149

Id:ENSG00000127990

Hgnc:HGNC:10808

Entrez:8910

Ensembl:ENSG00000127990

Description:sarcoglycan epsilon

This gene encodes the epsilon member of the sarcoglycan family. Sarcoglycans are transmembrane proteins that are components of the dystrophin-glycoprotein complex, which link the actin cytoskeleton to the extracellular matrix. Unlike other family members which are predominantly expressed in striated muscle, the epsilon sarcoglycan is more broadly expressed. Mutations in this gene are associated with myoclonus-dystonia syndrome. This gene is imprinted, with preferential expression from the paternal allele. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. A pseudogene associated with this gene is located on chromosome 2. [provided by RefSeq, Oct 2016]

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CFDE DD-Knowledge Graph

The CFDE Data Distillery Knowledge Graph contains entities and relationships across the CFDE. View SGCE's neighborhood in the knowledge graph.

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Playbook Workflow Builder: Gene-Centric Workflow

View Gene-Centric information about the gene from a pre-built PWB workflow. View the workflow with SGCE.

CFDE Gene-Centric Appyter

The CFDE Gene Centric Appyter Resolves and Displays Gene-Centric information from CFDE APIs. Execute the Appyter using SGCE.

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GDLPA Landing Pages Links

The Gene and Drug Landing Page Aggregator (GDLPA) finds links to primary and secondary source information from CFDE and other resources. Discover landing pages for SGCE.

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Playbook Workflow Builder

The Playbook Workflow Builder helps you interactively construct workflows leveraging CFDE APIs without code. Start a new workflow with SGCE.

Results found

Linked to

	Label	Description
	T60-Adrenal Consensus Gene Set (Entity type)	A Gene Set from MoTrPAC
	GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE218097 SOX10 overexpression glial cell 2 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE133933 fibulin-3 knockdown 2 v 1 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE110709 GSK-J4 5 v 3 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE184892 trehalose fibroblast 4 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE119424 GSE120214 TBXT brachyury inhibition 7 v 2 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE214306 CCM1 knockout 4 v 2 human up Gene Set (Entity type)	A Gene Set from LINCS
	GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS
	GSE161800 cisplatin A-549 0 v 1 human dn Gene Set (Entity type)	A Gene Set from LINCS

T60-Adrenal Consensus

Gene Set (Entity type)

A Gene Set from MoTrPAC

GSE179112 GSE179113 hydroxyl Hutt45 4 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE218097 SOX10 overexpression glial cell 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE133933 fibulin-3 knockdown 2 v 1 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE110709 GSK-J4 5 v 3 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE184892 trehalose fibroblast 4 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE119424 GSE120214 TBXT brachyury inhibition 7 v 2 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE214306 CCM1 knockout 4 v 2 human up

Gene Set (Entity type)

A Gene Set from LINCS

GSE179112 GSE179113 hydroxyl Hutt45 4 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

GSE161800 cisplatin A-549 0 v 1 human dn

Gene Set (Entity type)

A Gene Set from LINCS

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@CFDE Workbench 2026

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

Consortium

Community

Resources

CFDE Workbench

The CFDE Workbench is actively being developed and maintained by the CFDE Data Resource Center (DRC).The DRC is funded by OT2OD036435 from the Common Fund at the National Institutes of Health.

@CFDE Workbench 2026

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